RRBP1 - ribosome binding protein 1 Gene

中文名称：核糖体结合蛋白 1

种属: Homo sapiens

同用名: RRp; hES; p180; ES130; ES/130

关于 RRBP1

功能概要

该基因编码内质网 (ER) 膜的核糖体结合蛋白。研究表明，该基因在 ER 增殖、分泌途径和分泌细胞分化以及 ER-微管相互作用的介导中发挥作用。已经观察到选择性剪接，并且蛋白质同种型的特征在于 N 末端十肽和 C 末端七肽重复区域。串联重复的剪接导致核糖体结合亲和力和分泌功能的变化。重复长度不同的变体的全长性质尚未确定。该基因的假基因已在 3 号和 7 号染色体上被鉴定出来，并且 RRBP1 已被排除在导致 Alagille 综合征的候选基因之外，这是 20p12 号染色体上附近基因突变的结果。[RefSeq 提供，2012 年 4 月]

This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [provided by RefSeq, Apr 2012]